ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.3449G>T (p.Arg1150Leu)

gnomAD frequency: 0.00001  dbSNP: rs1273337644
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619108 SCV000735518 uncertain significance Cardiovascular phenotype 2018-09-24 criteria provided, single submitter clinical testing The p.R1150L variant (also known as c.3449G>T), located in coding exon 22 of the TRPM4 gene, results from a G to T substitution at nucleotide position 3449. The arginine at codon 1150 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002491310 SCV002789743 uncertain significance Progressive familial heart block type IB; Erythrokeratodermia variabilis et progressiva 6 2021-08-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531740 SCV003450209 uncertain significance Progressive familial heart block type IB 2021-12-24 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 518560). This variant has not been reported in the literature in individuals affected with TRPM4-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 1150 of the TRPM4 protein (p.Arg1150Leu).

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